|
KMID : 1235520210200010033
|
|
Research in Vestibular Science
2021 Volume.20 No. 1 p.33 ~ p.36
|
|
|
A Case of Spinocerebellar Ataxia Type 28
|
|
Choi Jae-Hwan
Oh Eun-Hye
Choi Seo-Young
Choi Kwang-Dong
|
|
|
Abstract
|
|
|
|
Spinocerebellar ataxia type 28 (SCA 28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia, dysarthria, nystagmus, ptosis, and ophthalmoplegia. It is caused by a heterozygous pathogenic mutation in the AFG3L2. So far, approximately 80 cases with genetically-confirmed SCA 28 have been reported in the literature. We report a patient with mild gait ataxia and dysarthria who carried a known pathogenic mutation in the AFG3L2. This is the first report of genetically-confirmed SCA 28 in Korea.
|
|
|
KEYWORD
|
|
|
Spinocerebellar ataxia type 28, AFG3L2 gene, Gait ataxia
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|